Variant ID: 1-55524320-G-A

NM_174936.3(PCSK9):c.1503G>A;(p.E501=)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.

Nature Communications
Lali, Ricky R; Chong, Michael M; Omidi, Arghavan A; Mohammadi-Shemirani, Pedrum P; Le, Ann A; Cui, Edward E; Paré, Guillaume G
Publication Date: 2021-10-06

Variant appearance in text: PCSK9: Glu501=
PubMed Link: 34615865
Variant Present in the following documents:
  • 41467_2021_26114_MOESM2_ESM.pdf
View BVdb publication page